unige:77374 | Copy number variants and therapeutic response to antidepressant medication in major depressive disorder | Tansey, K E; Rucker, J J H; Kavanagh, D H; Guipponi, Michel; ... Uher, R |
unige:42302 | Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families | Makrythanasis, Periklis; Nelis, Mari; Santoni, Federico; Guipponi, Michel; ... Hamamy, Hanan |
unige:42268 | Domains of genome-wide gene expression dysregulation in Down's syndrome | Letourneau, Audrey; Santoni, Federico; Bonilla Bustillo, Ximena; Sailani, Mohammad Reza; ... Antonarakis, Stylianos |
unige:42298 | Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes | Guipponi, Michel; Santoni, Federico; Setola, Vincent; Gehrig, Corinne; ... Antonarakis, Stylianos |
unige:42299 | Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia | Gannagé-Yared, Marie-Hélène; Makrythanasis, Periklis; Chouery, Eliane; Sobacchi, Cristina; ... Mégarbané, André |
unige:44227 | Extrachromosomal driver mutations in glioblastoma and low-grade glioma | Nikolaev, Sergey Igorievich; Santoni, Federico; Garieri, Marco; Makrythanasis, Periklis; ... Antonarakis, Stylianos |
unige:42301 | Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations | Nikolaev, Sergey Igorievich; Garieri, Marco; Santoni, Federico; Falconnet, Emilie; ... Antonarakis, Stylianos |
unige:36344 | Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling | Callier, Patrick; Calvel, Pierre; Matevossian, Armine; Makrythanasis, Periklis; ... Nef, Serge |
unige:34274 | Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 | Hibaoui, Youssef; Grad, Iwona; Letourneau, Audrey; Sailani, Mohammad Reza; ... Feki, Anis |
unige:42303 | Next generation diagnostics on cardiomyopathy | Blouin, Jean-Louis; Bevillard, Jeremy; Makrythanasis, Periklis; Guipponi, Michel; ... Fokstuen, Siv |
unige:34230 | Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster | Santoni, Federico; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Guipponi, Michel; ... Antonarakis, Stylianos |